NCT02389049|CompletedDMC
Genetics of Primary Ciliary Dyskinesia
Research Genetic Testing for Primary Ciliary Dyskinesia Using a Panel of Genes
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Research Genetic Testing for Primary Ciliary Dyskinesia Using a Panel of Genes
Sponsor study identifier
Secondary identifiers
observational
320
2 countries
8
Study Start
February 2015
Date type not reportedThis date has not been verified as actual or estimated.
Primary Completion
July 2018
Actual (reported)Study Completion
July 2018
Actual (reported)This study is designed to study DNA sequencings for mutations in a research genetic test panel of genes (which contains all 32 known and/or published genes associated with PCD). The study aims to show that about 70% of PCD patients have biallelic mutations in one of these genes. This project will enroll patients who have already had a clinical evaluation, and have clinical features consistent with PCD.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
July 2018
Actual (reported)Click on a node to explore related trials.
Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
February 2015
Date type not reportedThis date has not been verified as actual or estimated.
March 9, 2015
Actual (reported)March 17, 2015
Actual (reported)July 2018
Actual (reported)July 2018
Actual (reported)Confirm PCD diagnosis in patients using a panel of 32 genes
The primary objective is to perform research genetic (Ampliseq panel) testing in patients who are known or suspected to have PCD, based on previous research or future clinical and lab characterization by certified clinical research sites. We will define the prevalence of biallelic PCD-causing mutations in patients who fulfill criteria of very high likelihood of PCD, as well as prevalence in other patients with some features of PCD. We anticipate successful completion of this objective will provide the foundation for development of clinically available genetic test panels, particularly as additional PCD genes are identified.
Up to 5 years
Identify patients with PCD who do not have a biallelic PCD-causing mutation
Up to 5 years
Study participants should have 2 or more clinical features of PCD.
Stanford University
Palo Alto, California, 94304, United States
The Children's Hospital, Denver
Aurora, Colorado, 80045, United States
Riley Hospital for Children
Indianapolis, Indiana, 46202, United States
Washington University, St. Louis
St Louis, Missouri, 63110, United States
The University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, 27599, United States
Children's Hospital and Regional Medical Center, Seattle
Seattle, Washington, 98105, United States
The Hospital for Sick Children
Kaspy KR, Dell SD, Davis SD, Ferkol TW, Rosenfeld M, Sagel SD, Milla C, Olivier KN, Barber AT, Wee W, Lin FC, Li L, Rampakakis E, Zariwala MA, Knowles MR, Leigh MW, Shapiro AJ. Situs Ambiguus Is Associated With Adverse Clinical Outcomes in Children With Primary Ciliary Dyskinesia. Chest. 2024 May;165(5):1070-1081. doi: 10.1016/j.chest.2023.12.005. Epub 2023 Dec 9.
Blood or buccal samples
Michael Knowles, MD
University of North Carolina, Chapel Hill
320 participants (actual enrollment reported by the registry).
First Submitted
March 9, 2015
First Posted
March 17, 2015
Study Start
February 2015
Date type not reportedThis date has not been verified as actual or estimated.
The Ear-Nose-Throat (ENT) Prospective International Cohort of PCD Patients (EPIC-PCD)
Defining the Genetic Etiology of Suppurative Lung Disease in Children and Adults
Contact the study team to confirm eligibility.
Toronto, Ontario, Canada
McGill University
Montreal, Quebec, Canada
Primary Completion
July 2018
Actual (reported)Study Completion
July 2018
Actual (reported)Last Updated
August 10, 2022
Record last verified: 2022-08
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Source: ClinicalTrials.gov.
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